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For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means comprehensive. … inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes …
Educational Resources
An oncogene is a mutated gene that contributes to the development of a cancer.
… oncogene becomes mutated, it is called a proto-oncogene, and it plays a role in regulating normal cell division. … a proto-oncogene is mutated, changing it into an oncogene and causing the cell to divide and multiply uncontrollably. Some oncogenes work like an …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders. … Genetics Residency Program exposes students to rare genetic disorders that might not be seen in a more typical … clinical research, one of the few programs to do so; and grants access to the vast resources at the National …
Educational Resources
Substitution is a type of mutation where one base pair is replaced by a different base pair.
News Release
Two grants will support studies on genomic literacy among Africans relating to research conducted in Africa by African investigators.
… $300,000 will support studies on genomic literacy among Africans as it relates to research conducted in Africa by … The three-year grants are part of the Human Heredity and Health in Africa (H3Africa) program, funded by the … will support a research project to understand cultural and language concepts of genomics in Nigeria. The goal is to …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by … affects small, isolated populations, the effects of genetic drift can be strong, sometimes causing traits to …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … are the DNA instructions you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … hard to understand, however specialists like geneticists and genetic counselors can help explain what results might …
Educational Resources
Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome.
… prominent in plants, although they can also cause genetic diseases in humans. Duplications have been an … mechanism in the evolution of the genomes of humans and other organisms. …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the relative locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family … By studying inheritance patterns, the relative order and location of genetic markers along a chromosome can be …
Talking Glossary
Genetic architecture is the combined effect of all genetic influences on a trait.
… Genetic Architecture … Genetic architecture is the combined effect of all genetic influences on a trait. … Genetic architecture describes the combined contribution of … of a trait can help us understand its evolution and underlying biology. For traits that are related to a …